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HIES
MCID: HYP458
MIFTS: 60

Hyper Ige Syndrome (HIES)

Categories: Blood diseases, Immune diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Hyper Ige Syndrome

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MalaCards integrated aliases for Hyper Ige Syndrome:

Name: Hyper Ige Syndrome 12 20 15
Hyper-Ige Syndrome 58 36 29 54 6
Hyper-Ige Recurrent Infection Syndrome 20
Hyper Immunoglobulin E Syndrome 12
Hyperimmunoglobulin E Syndrome 20
Hartnup Disease 71
Job Syndrome 71
Hyper Ige 74
Hies 20

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Blood diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:0080545
KEGG 36 H01968
ICD10 via Orphanet 33 D82.4
UMLS via Orphanet 72 C3887645
Orphanet 58 ORPHA331223
UMLS 71 C0018609 C3887645
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Summaries for Hyper Ige Syndrome

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KEGG : 36 Hyper-IgE syndrome (HIES) is a complex primary immunodeficiency characterized by atopic dermatitis associated with extremely high serum IgE levels and susceptibility to infections with extracellular bacteria. Most cases of HIES are sporadic although can be inherited as autosomal dominant and autosomal recessive traits. One of the involved genes in pathogenesis of HIES is STAT3 that causes autosomal dominant type. In most sporadic and autosomal dominant cases, the HIES is part of a multisystem disorder including abnormalities of the soft tissue, skeletal, and dental systems. In contrast, those with autosomal recessive-HIES have severe molluscum contagiosum and viral infections and may develop severe neurological complications. Recently, It has been reported that mutations in DOCK8, TYK2, and PGM3 cause autosomal recessive HIES.

MalaCards based summary : Hyper Ige Syndrome, also known as hyper-ige syndrome, is related to hyper-ige recurrent infection syndrome 1, autosomal dominant and immunodeficiency 35, and has symptoms including seizures An important gene associated with Hyper Ige Syndrome is STAT3 (Signal Transducer And Activator Of Transcription 3), and among its related pathways/superpathways are Innate Immune System and PEDF Induced Signaling. The drugs Diclofenac and Acetylcholine have been mentioned in the context of this disorder. Affiliated tissues include skin, prostate and liver, and related phenotypes are hematopoietic system and immune system

Disease Ontology : 12 A hyperimmunoglobulin syndrome that is characterized by eczema, distinct facial features, a tendency to experience bone fractures and recurrent bacterial infections of the skin and lungs.

GARD : 20 Hyper IgE syndromes (HIES) are rare primary immune deficiencies characterized by elevated serum IgE, skin inflammation (dermatitis) and recurrent skin and lung infections. There are two forms of HIES, which have the above characteristics in common but otherwise have distinct presentations, courses and outcomes: autosomal dominant HIES (AD-HIES) and autosomal recessive HIES (AR-HIES). Click on the embedded links to learn more about autosomal dominant HIES (or Job syndrome) and autosomal recessive HIES.

Wikipedia : 74 Hyperimmunoglobulinemia E syndrome (HIES), of which the autosomal dominant form is called Job's syndrome... more...

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Related Diseases for Hyper Ige Syndrome

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Diseases related to Hyper Ige Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 643)
# Related Disease Score Top Affiliating Genes
1 hyper-ige recurrent infection syndrome 1, autosomal dominant 33.5 STAT3 IL6ST
2 immunodeficiency 35 32.8 ZNF341 TYK2 STAT3 PGM3 IL10 DOCK8
3 hyper ige recurrent infection syndrome 1 32.3 ZNF341 TYK2 STAT3 PGM3 IL6ST IL17A
4 chronic mucocutaneous candidiasis 31.8 ZNF341 TYK2 TNF TLR2 STAT3 IL4
5 exanthem 31.3 TNF IL10 IFNG CSF2
6 hypereosinophilic syndrome 31.3 STAT3 IL4 IL13 IL10 IGHE IGES
7 dermatitis 31.3 TNF TLR2 STAT3 IL4 IL17A IL13
8 candidiasis 31.1 TNF TLR4 TLR2 STAT3 IL4 IL17A
9 ige responsiveness, atopic 31.0 IL4 IL21R IL13 IL10 IGHE IGES
10 bacterial infectious disease 31.0 TNF TLR4 TLR2 IRAK4 IL17A IL10
11 tetanus 31.0 TNF IL4 IL13 IL10 IFNG
12 dermatitis, atopic 31.0 TNF TLR4 TLR2 IL4 IL17A IL13
13 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 31.0 IL17A IL10 IFNG
14 haemophilus influenzae 31.0 TNF TLR2
15 septic arthritis 31.0 TLR4 TLR2 IFNG
16 allergic bronchopulmonary aspergillosis 30.9 IL4 IL10 IGHE IGES IFNG
17 chronic granulomatous disease 30.8 TNF IL17A IFNG CSF2
18 aspergillosis 30.8 TNF TLR4 TLR2 STAT3 IL4 IL10
19 lung abscess 30.8 TNF IGES IFNG DOCK8
20 cellulitis 30.7 TNF IGES CSF2
21 immune deficiency disease 30.7 TNF TLR2 IRAK4 IL4 IL17A IL13
22 eczema herpeticum 30.7 IL4 IFNG DOCK8
23 otitis media 30.6 TNF TLR4 TLR2 IL4 IL17A IL10
24 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 30.6 IL4 IL17A IL10 DOCK8
25 diphtheria 30.6 TNF IL4 IL13 IFNG CSF2
26 orofacial granulomatosis 30.6 TNF IL4 IL10 IFNG
27 pemphigoid 30.6 TNF IL4 IL13 IFNG
28 suppurative lymphadenitis 30.6 IFNG DOCK8
29 invasive aspergillosis 30.6 TLR4 TLR2 IL10 IFNG
30 gastritis 30.6 TNF TLR4 IL17A IL10
31 atrophoderma vermiculata 30.6 IFNG CSF2
32 mastitis 30.5 TLR2 IL17A CSF2
33 hidradenitis 30.5 TNF IL17A IFNG
34 hidradenitis suppurativa 30.5 TNF IL17A IFNG
35 lymphopenia 30.5 TYK2 IL4 IL10 IFNG
36 infective endocarditis 30.5 TNF TLR2 IL17A
37 periapical periodontitis 30.5 TNF TLR2 IL17A IL10
38 bullous pemphigoid 30.5 TNF IL4 IL13 IGHE
39 herpes zoster 30.5 TNF TLR2 IL10 IFNG
40 pyelonephritis 30.5 TNF TLR4 IL10 IFNG
41 pericarditis 30.5 TNF IRAK4 IFNG
42 nail disease 30.5 TYK2 TNF STAT3 IL17A DOCK8
43 hemophagocytic lymphohistiocytosis 30.5 TYK2 TNF IL10 IFNG
44 acquired immunodeficiency syndrome 30.5 TNF IL10 IFNG CSF2
45 mumps 30.5 TNF IL10 IFNG
46 measles 30.5 TNF TLR4 TLR2 IFNG
47 chickenpox 30.5 TNF IL4 IL10 IFNG DOCK8
48 keratoconjunctivitis 30.5 TNF IL4 IL17A IL13 IFNG
49 lymphadenitis 30.5 TNF TLR4 STAT3 IL10 IFNG
50 esophagitis 30.5 TNF IL4 IL13 IL10

Graphical network of the top 20 diseases related to Hyper Ige Syndrome:



Diseases related to Hyper Ige Syndrome
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Symptoms & Phenotypes for Hyper Ige Syndrome

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UMLS symptoms related to Hyper Ige Syndrome:


seizures

MGI Mouse Phenotypes related to Hyper Ige Syndrome:

46 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.41 CSF2 DOCK8 IFNG IL10 IL13 IL17A
2 immune system MP:0005387 10.38 CSF2 DOCK8 IFNG IL10 IL13 IL17A
3 cellular MP:0005384 10.37 CSF2 DOCK8 IFNG IL10 IL13 IL4
4 homeostasis/metabolism MP:0005376 10.37 CSF2 IFNG IL10 IL13 IL17A IL21R
5 growth/size/body region MP:0005378 10.34 CSF2 IFNG IL10 IL13 IL17A IL21R
6 endocrine/exocrine gland MP:0005379 10.31 CSF2 IFNG IL10 IL13 IL17A IL21R
7 digestive/alimentary MP:0005381 10.29 IFNG IL10 IL13 IL17A IL4 IL6ST
8 mortality/aging MP:0010768 10.25 CSF2 IFNG IL10 IL13 IL17A IL21R
9 integument MP:0010771 10.2 CSF2 IFNG IL10 IL13 IL17A IL4
10 nervous system MP:0003631 10.1 CSF2 DOCK8 IFNG IL10 IL13 IL4
11 liver/biliary system MP:0005370 10.03 IFNG IL10 IL4 IL6ST STAT3 TLR2
12 neoplasm MP:0002006 9.97 CSF2 IFNG IL10 IL6ST STAT3 TLR2
13 renal/urinary system MP:0005367 9.91 CSF2 IFNG IL17A IL21R IL4 PGM3
14 reproductive system MP:0005389 9.9 CSF2 IFNG IL10 IL13 IL21R IL4
15 respiratory system MP:0005388 9.65 CSF2 IFNG IL10 IL13 IL17A IL4
16 skeleton MP:0005390 9.44 CSF2 IFNG IL10 IL13 IL17A IL4
Sources

Drugs & Therapeutics for Hyper Ige Syndrome

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Drugs for Hyper Ige Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 518)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
2
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
3
Omalizumab Approved, Investigational Phase 4 242138-07-4
4
Sodium citrate Approved, Investigational Phase 4 68-04-2
5
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
6
Hydromorphone Approved, Illicit Phase 4 466-99-9 5284570
7
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
8
Chlorthalidone Approved Phase 4 77-36-1 2732
9
Acetazolamide Approved, Vet_approved Phase 4 59-66-5 1986
10
Bumetanide Approved Phase 4 28395-03-1 2471
11
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
12
Sufentanil Approved, Investigational Phase 4 56030-54-7 41693
13
Glycerol Approved, Investigational Phase 4 56-81-5 753
14
Acetaminophen Approved Phase 4 103-90-2 1983
15
Darunavir Approved Phase 4 635728-49-3, 206361-99-1 213039
16
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492 6473866
17
Nitrous oxide Approved, Vet_approved Phase 4 10024-97-2 948
18
Alprazolam Approved, Illicit, Investigational Phase 4 28981-97-7 2118
19
Zinc oxide Approved Phase 4 1314-13-2
20
Thrombin Approved, Investigational Phase 4
21
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
22
Etravirine Approved Phase 4 269055-15-4 193962
23
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
24
Emtricitabine Approved, Investigational Phase 4 143491-57-0 60877
25
Exenatide Approved, Investigational Phase 4 141758-74-9 15991534
26
Insulin glargine Approved Phase 4 160337-95-1
27
Phentermine Approved, Illicit Phase 4 122-09-8 4771
28
Etomidate Approved Phase 4 33125-97-2 36339 667484
29
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
30
Cetrorelix Approved, Investigational Phase 4 120287-85-6 16129715 25074887
31
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
32
Polyestradiol phosphate Approved Phase 4 28014-46-2
33
Bromocriptine Approved, Investigational Phase 4 25614-03-3 31101
34
Cabergoline Approved Phase 4 81409-90-7 54746
35
Quinagolide Approved, Investigational Phase 4 87056-78-8, 97805-50-0 105105
36
Adalimumab Approved, Experimental Phase 4 331731-18-1 16219006
37
Galantamine Approved Phase 4 357-70-0 9651
38
Donepezil Approved Phase 4 120014-06-4 3152
39
Rivastigmine Approved, Investigational Phase 4 123441-03-2 77991
40
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
41
Apomorphine Approved, Investigational Phase 4 58-00-4, 41372-20-7 6005
42
Levodopa Approved Phase 4 59-92-7 6047
43
Carbidopa Approved Phase 4 28860-95-9 34359
44
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
45
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
46
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 6221 5280795
47
Tenofovir Experimental, Investigational Phase 4 147127-20-6 464205
48 Caseins Phase 4
49 Fluorides, Topical Phase 4
50 Anti-Inflammatory Agents, Non-Steroidal Phase 4

Interventional clinical trials:

(show top 50) (show all 1226)
# Name Status NCT ID Phase Drugs
1 Esthetic Effect of Casein Phosphopeptide-Amorphous Calcium Phosphate Varnish Versus Tricalcium Phosphate Varnish on Postorthodontic White Spot Lesions: A Randomized Pilot Study Unknown status NCT03217084 Phase 4 MI varnish GC;White varnish 3M
2 Reminerlization Potential of Innovative Biomimetic Material Versus Casein Phosphopeptide-amorphous Calcium Phosphate in Caries White Spot Lesions "A Randomized Clinical Trial" Unknown status NCT03823612 Phase 4 Clinpro Tooth Creme;GC tooth mousse
3 Randomized Controlled Trial to Evaluate the Efficiency of IV Fluids in the Treatment of Renal Colic Unknown status NCT03529097 Phase 4 0.9% Sodium-chloride;Placebos;Optalgin, Voltaren, Morphine
4 The Impact of Botulinum Toxin Treatment in Quality of Life of Cervical Dystonia Patients Unknown status NCT01664013 Phase 4 Nuronox
5 Diamox/Aldactone to Increase the URinary Excretion of Sodium: an Investigational Study in Congestive Heart Failure Completed NCT01973335 Phase 4 Combination therapy with acetazolamide and low-dose loop diuretics;High-dose loop diuretics;Upfront therapy with oral spironolactone
6 The Putative Correlation Between Impaired Hip Flexor Passivity and Common Lower Back Pain: a Pilot Study. Completed NCT02335047 Phase 4
7 Randomized Evaluation of the Use of Plastic Bags to Prevent Neonatal Hypothermia in Developing Countries-Part V Completed NCT01604460 Phase 4
8 Acute and Chronic Effect of His-pacing in Consecutive Patients With AV-block Completed NCT01019213 Phase 4
9 A 26-week, Randomized, Double-blind, Parallel-group, Placebo-controlled,Multi-center Study to Evaluate the Effect of Omalizumab on Improving the Tolerability of Specific Immunotherapy in Patients With at Least Moderate Persistent Allergic Asthma Inadequately Controlled With Inhaled Corticosteroids Completed NCT00267202 Phase 4 Placebo;Omalizumab;Immunotherapy;Immunotherapy
10 A Randomized Trial to Evaluate the Use of Plastic Bags in Preventing and Treating Hypothermia in Neonates in Developing Countries Completed NCT01403623 Phase 4
11 Acute Severe Traumatic Pain in the ED : Can we Improve Time to Pain-relief With a Single Dose of Intranasal Sufentanil Given at Triage ? A Randomized Double-blinded Placebo Controlled Study (InSPEED Study) Completed NCT01954368 Phase 4 Placebo;Sufentanil
12 Study Of Disc Anaesthesia For The Preoperative Diagnosis Of Chronic Lower Back Pain Completed NCT00443781 Phase 4
13 A Randomized, Double-blind, Paired-Comparison of the Effect of Collagenase Santyl® Ointment on Healing and Scarring Characteristics of 600μm Dermatome Wounds Completed NCT00651820 Phase 4 Collagenase Santyl;Collagenase Santyl Vehicle
14 Randomized Clinical Trial Comparing Intravenous Hydromorphone to Usual Care Completed NCT01429298 Phase 4 Hydromorphone;Usual care
15 Effects of a Series of Intensified Prevention Consultations on the Changes in Goals and Risk Factors in Hypertensive Patients at High Cardiovascular Risk Completed NCT00348855 Phase 4
16 An Open-label Non-randomized Phase IV Trial of the Clinical Efficacy of Intravenously Administered 1000mg Paracetamol as Antipyretic and Analgesic Medication Completed NCT01070732 Phase 4 Paracetamol
17 Echo Study - Characterization of LV Strain Patterns in Patients With Mildly Elevated PCWP and Pulmonary Hypertension Completed NCT01800292 Phase 4 sildenafil
18 The Long-Term Quitting Study: Testing Relapse Recovery Intervention Components Completed NCT02564315 Phase 4 Nicotine Mini-Lozenge for 11 Months;Cessation Phase Nicotine Patch + Nicotine Mini-Lozenge
19 Evaluation de l'Impact Sur la qualité de Vie de l'Utilisation d'un système Collecteur Conveen( étuis pénien Conveen Optima Avec Poches de Recueil Conveen) Chez Des Hommes Souffrant d'Une Incontinence Urinaire modérée ou sévère, Comparativement à Leur Protection Absorbante Habituelle Completed NCT01056666 Phase 4
20 Effectiveness of Intranasal Versus Intravenous Fentanyl in Preterm and Term Newborns for Pain Prevention Completed NCT02125201 Phase 4 Fentanyl
21 Pharmacokinetic Studies of Tacrolimus in Transplant Patients Completed NCT01889758 Phase 4 Prograf;Tacrolimus;Tacrolimus
22 Effectiveness of PRECEDE Model for Health Education on Cardiovascular Risk Reduction in Patients With Type 2 Diabetes Mellitus Completed NCT01316367 Phase 4
23 Quantitative Subharmonic Breast Imaging Completed NCT01490892 Phase 4 3D HI and SHI of UCA
24 Vascular and Metabolic Effects of Vitamin D Supplementation Associated With Lifestyle Management in Obese Adolescents: Prospective, Randomized, Controlled Trial Completed NCT02400151 Phase 4 Vitamin D supplementation;Placebo
25 Pilot Study: A Structural Approach to Implement the Role of 'Physical Activity Counselors' in Sports and Exercise Promotion in Flanders Completed NCT01516099 Phase 4
26 Efficacy of Aerobic Exercise Added to Alprazolam in Panic Disorder Treatment: a Clinical Randomized Trial Completed NCT00803400 Phase 4 Alprazolam;Alprazolam + Aerobic exercise
27 A Non-Investigational Post-Market Trial Using EVARRESTâ„¢ Fibrin Sealant Patch as an Adjunct to Hemostasis in Soft Tissue Bleeding During Intra-Abdominal, Retroperitoneal, Pelvic and Non-Cardiac Thoracic Surgery Completed NCT01902459 Phase 4
28 Management Using the Latest Technologies in Resource-limited Settings to Optimize Combination Therapy After Viral Failure (MULTI-OCTAVE) Completed NCT01641367 Phase 4 Darunavir;Etravirine;Emtricitabine/tenofovir disoproxil fumarate;Raltegravir;Second line ART regimens - based on a boosted protease inhibitor (bPI) plus two nucleoside analogues (NRTIs);Study provided drugs according to patient resistance profile (DRV, ETR, RTV, FTC/TDF) + any in country available drug as applicable & available
29 Exenatide Inpatient Trial: A Randomized Controlled Pilot Trial on the Safety and Efficacy of Exenatide (Byetta®) Therapy for the Inpatient Management of General Medicine and Surgery Patients With Type 2 Diabetes Completed NCT02455076 Phase 4 Exenatide;Glargine;Rapid-acting insulin analogs
30 A Within Subjects Comparison of Two Antegrade Flushing Regimens in Children Completed NCT02435069 Phase 4 Dose Response - NS and USP Glycerin - First Intervention;Effectiveness - NS and USP Glycerin - Second Intervention
31 Randomized Evaluation of the Use of Plastic Bags to Prevent Neonatal Hypothermia in Developing Countries-Part IV Completed NCT01604447 Phase 4
32 Impact of Six Patient Information Leaflets (PIL) on Doctor Patient Communication and Adherence in Emergency Ward Completed NCT02246361 Phase 4
33 Analgesia of Acute Coronary Syndromes With ST-segment Elevation in a Pre-hospital Setting. Randomized Non-inferiority Trial of the Association MEOPA + Paracetamol Versus Morphine. Completed NCT02198378 Phase 4 MEOPA and paracetamol;Morphine
34 A Long Term, Open-Label, Multi-Center Study Evaluating Safety and Tolerability of Oxycodone in Patients With Moderate to Severe Cancer Pain Completed NCT03176121 Phase 4 Oxycodone
35 Methylphenidate Study in Young Children With Developmental Disorders Completed NCT00517504 Phase 4 Methylphenidate
36 Effectiveness and Tolerability of Phentermine in the Reduction of Intrahepatic Fat Infiltration, Adipose Tissue and Postoperative Complications in Patients Under Bariatric Surgery Completed NCT03849729 Phase 4 Phentermine
37 Intra-articular Lidocaine vs Procedural Sedation for Anterior Shoulder Dislocations Recruiting NCT03625076 Phase 4 Intra-articular Lidocaine;Procedural Sedation with etomidate or propofol
38 Mechanism and Modulation of Sex Differences in Myocardial Steatosis Induced Left Ventricular Dysfunction Recruiting NCT04671966 Phase 4 Estradiol patch;Cetrotide
39 Multi-Modal Imaging of Psychostimulant Effects on Executive Function Post-RRSO Recruiting NCT03187353 Phase 4 Lisdexamfetamine;Placebo oral capsule
40 PRolaCT - Three Multicenter Prolactinoma Randomized Clinical Trials Recruiting NCT04107480 Phase 4 Dopamine Agonists
41 An Open-label Randomized Trial COmparing staNdard of Care Versus Treat to Target With telemonitoRing and Patient Education in Patients With Ulcerative cOlitis Initiating adaLimumab: The CONTROL Trial Recruiting NCT04183608 Phase 4 Adalimumab
42 Variation in Rate of Orthodontic Tooth Movement in Response to Platelet Rich Plasma Therapy Active, not recruiting NCT04016727 Phase 4
43 Comparison of Therapeutic Strategies With Cholinesterase Inhibitors: Stop or Still (SOS) Trial Not yet recruiting NCT03454646 Phase 4 cholinesterase inhibitors (CI) (donepezil, galantamine or rivastigmine)
44 Multicenter, Prospective Study, on the Consequences of Anti-interleukin 6 Immunotherapy Treatment for Rheumatoid Arthritis on: - Healthy and Pathological Periodontium - The Level of Expression of Some Markers of Inflammation and Periodontal Pathogenic Bacteria in Periodontal Sulci and Periodontal Pockets Terminated NCT01806974 Phase 4
45 Outpatient Physical Therapy Intervention in Subjects With Parkinson's DiseaseCurrently Using APOKYN®: A Phase IV Study of Outcome Assessments of Physical Therapy in Subjects in an "On" Versus "End-of-Dose-Off" Motor State Terminated NCT02549573 Phase 4 APOKYN
46 First Laparoscopy or Active Observation in Acute Non-specific Abdominal Pain: The FLO Trial Terminated NCT01675466 Phase 4
47 Phase II GENIUS Trial of GENetically-Informed Therapies for Patients With previoUSly Treated Refractory Metastatic Cancer Withdrawn NCT02000739 Phase 4
48 Effect Of Early C-PAP Treatment For Sleep Apnea On Rehabilitation Of Stroke Patients Withdrawn NCT02426424 Phase 4
49 A Prospective, Single-center, Non-randomized, Consecutive Series Clinical Study Comparing the Functional Differences Between a Standard Posterior Stabilized Total Knee Replacement and a High-flexion Posterior Stabilized Total Knee Replacement Withdrawn NCT00808613 Phase 4
50 SCIPA (Spinal Cord Injury and Physical Activity) Hands-On: Early Intensive Hand Rehabilitation After Spinal Cord Injury Unknown status NCT01086930 Phase 3

Search NIH Clinical Center for Hyper Ige Syndrome

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Genetic Tests for Hyper Ige Syndrome

About this section

Genetic tests related to Hyper Ige Syndrome:

# Genetic test Affiliating Genes
1 Hyper-Ige Syndrome 29
Sources

Anatomical Context for Hyper Ige Syndrome

About this section

MalaCards organs/tissues related to Hyper Ige Syndrome:

40
Skin, Prostate, Liver, Bone, Spinal Cord, Eye, Heart
Sources

Publications for Hyper Ige Syndrome

About this section

Articles related to Hyper Ige Syndrome:

(show top 50) (show all 607)
# Title Authors PMID Year
1
Reduced expression of chemoattractant receptors by polymorphonuclear leukocytes in Hyper IgE Syndrome patients. 61 54
20005258 2010
2
Uncovering an IL-10-dependent NF-kappaB recruitment to the IL-1ra promoter that is impaired in STAT3 functionally defective patients. 54 61
20032313 2010
3
A novel mutation in the signal transducer and activator of transcription 3 (STAT3) gene, in hyper-IgE syndrome. 61 54
20149460 2010
4
Rapid molecular analysis of the STAT3 gene in Job syndrome of hyper-IgE and recurrent infectious diseases. 54 61
20093388 2010
5
Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome. 61 54
20159255 2010
6
Hyper-IgE syndrome with STAT3 mutation: a case report in Mainland China. 54 61
20490271 2010
7
Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome. 61 54
20004785 2009
8
Hyper-IgE syndrome. 54 61
19717292 2009
9
TH17 cells and regulatory T cells in primary immunodeficiency diseases. 54 61
19410687 2009
10
STAT3 single-nucleotide polymorphisms and STAT3 mutations associated with hyper-IgE syndrome are not responsible for increased serum IgE serum levels in asthma families. 54 61
18841165 2009
11
Hyper IgE syndrome with umbilical hernia. 54 61
20101344 2009
12
[Hyper-IgE syndrome with mutation in STAT3 gene - case report and literature review]. 54 61
19648655 2009
13
Rare association of hyper IgE syndrome with cervical rib and natal teeth. 54 61
20101342 2009
14
Elevated serum immunoglobulin E (IgE): when to suspect hyper-IgE syndrome-A 10-year pediatric tertiary care center experience. 54 61
19331717 2009
15
Insights into the role of STAT3 in human lymphocyte differentiation as revealed by the hyper-IgE syndrome. 61 54
19109129 2009
16
Primary immune deficiencies with aberrant IgE production. 61 54
19084106 2008
17
Reduced memory B cells in patients with hyper IgE syndrome. 54 61
18835223 2008
18
Hyper IgE syndrome: an update on clinical aspects and the role of signal transducer and activator of transcription 3. 61 54
18978467 2008
19
Novel and recurrent STAT3 mutations in hyper-IgE syndrome patients from different ethnic groups. 54 61
18706697 2008
20
Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced T(H)17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome. 54 61
18602572 2008
21
Deficiency of Th17 cells in hyper IgE syndrome due to mutations in STAT3. 54 61
18591410 2008
22
Histopathologic Findings of Pneumatocele in a Patient with Hyper-IgE syndrome, compatible with cystic adenomatoid malformation. 54 61
18552413 2008
23
Fournier gangrene associated with hyper IgE syndrome (Job syndrome). 61 54
18380833 2008
24
[STAT3 mutation identified in patients with Hyper-IgE syndrome]. 61 54
18334168 2008
25
Hyperimmunoglobulin E syndrome (Job's syndrome). 61 54
19284090 2008
26
STAT3 mutations in the hyper-IgE syndrome. 61 54
17881745 2007
27
Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome. 61 54
17676033 2007
28
[Allergic disease with IgE hypersynthesis. Proposal of a new denomination for an allergic disease confused with immunodeficiency]. 54 61
18297852 2007
29
The hyper IgE syndrome and mutations in TYK2. 61 54
17521577 2007
30
Causes of death in hyper-IgE syndrome. 54 61
17335882 2007
31
[Pneumocystis carinii pneumonia in a patient with hyper-IgE syndrome]. 61 54
17554982 2007
32
Hyper IgE syndrome: review and future directions. 61 54
20477605 2005
33
No indication for a defect in toll-like receptor signaling in patients with hyper-IgE syndrome. 54 61
16133988 2005
34
Production of biologically active recombinant human soluble CD23 and its effect on PBMCs isolated from hyper-IgE blood. 54 61
16083870 2005
35
Non-Hodgkin's lymphoma in Job's syndrome: a case report and literature review. 54 61
15621772 2004
36
Cow's milk allergy in a patient with hyper-IgE syndrome. 61 54
15104201 2004
37
[28-Year-Old Patient with Elevated Serum IgE Levels and Multiple Refractory Epidural and Paravertebral Abscesses. Clinical manifestation of a Job's Syndrome?]. 54 61
14551710 2003
38
Selective insufficiency of IFN-gamma secretion in patients with hyper-IgE syndrome. 54 61
12708982 2003
39
Hyper immunoglobulin-E syndrome: a case with chronic ear draining mimicking polypoid otitis media. 54 61
12663115 2003
40
[Anesthetic management for a patient with hyper-IgE syndrome]. 61 54
12649874 2003
41
Detection and characterization of plasma cells in peripheral blood: correlation of IgE+ plasma cell frequency with IgE serum titre. 54 61
12452825 2002
42
[Manifestation of hyper-IgE syndrome in advanced HIV-1 infection]. 54 61
11831060 2002
43
Cytokine and chemokine dysregulation in hyper-IgE syndrome. 61 54
11414745 2001
44
[Loss of an eye due to hyper-IgE syndrome after corneal transplantation]. 54 61
11198964 2001
45
[Hyper-IgE syndrome treated with interferon alpha 2 beta. Report of a case]. 61 54
11558395 2000
46
The relationship between serum IgE and surface levels of FcepsilonR on human leukocytes in various diseases: correlation of expression with FcepsilonRI on basophils but not on monocytes or eosinophils. 54 61
10984372 2000
47
Bone marrow transplantation does not correct the hyper IgE syndrome. 54 61
10871737 2000
48
Defective interleukin-12/interferon-gamma pathway in patients with hyperimmunoglobulinemia E syndrome. 54 61
10657822 2000
49
Pentasomy X and hyper IgE syndrome: co-existence of two distinct genetic disorders. 54 61
10485303 1999
50
Increase in granulocyte-macrophage-colony-stimulating factor secretion and the respiratory burst with decreased L-selectin expression in hyper-IgE syndrome patients. 54 61
10507271 1999
Sources

Variations for Hyper Ige Syndrome

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ClinVar genetic disease variations for Hyper Ige Syndrome:

6 (show all 23)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PGM3 NM_015599.3(PGM3):c.248T>C (p.Leu83Ser) SNV Pathogenic 133320 rs267608260 6:83898474-83898474 6:83188755-83188755
2 STAT3 NM_139276.2(STAT3):c.1909G>A (p.Val637Met) SNV Pathogenic 18308 rs113994139 17:40474492-40474492 17:42322474-42322474
3 PGM3 NM_015599.3(PGM3):c.1016_1018AAG[1] (p.Glu340del) Microsatellite Pathogenic 156471 rs267608259 6:83888400-83888402 6:83178681-83178683
4 DOP1A NM_015599.3(PGM3):c.1504G>T (p.Asp502Tyr) SNV Pathogenic 133321 rs267608261 6:83880059-83880059 6:83170340-83170340
5 STAT3 NM_139276.2(STAT3):c.1234A>T (p.Thr412Ser) SNV Pathogenic 633433 rs1567713850 17:40481475-40481475 17:42329457-42329457
6 STAT3 NM_139276.2(STAT3):c.1979T>C (p.Met660Thr) SNV Likely pathogenic 265261 rs886039434 17:40474422-40474422 17:42322404-42322404
7 STAT3 NM_139276.2(STAT3):c.*2340dup Duplication Uncertain significance 323207 rs886052930 17:40465422-40465423 17:42313404-42313405
8 STAT3 NM_139276.2(STAT3):c.*893dup Duplication Uncertain significance 323231 rs754306251 17:40466869-40466870 17:42314851-42314852
9 DOCK8 NM_203447.3(DOCK8):c.3234+15dup Duplication Uncertain significance 366970 rs375864618 9:399267-399268 9:399267-399268
10 DOCK8 NM_203447.3(DOCK8):c.828-7A>G SNV Uncertain significance 366578 rs200243583 9:325664-325664 9:325664-325664
11 STAT3 NM_139276.2(STAT3):c.1101C>G (p.Cys367Trp) SNV Uncertain significance 323246 rs886052942 17:40483498-40483498 17:42331480-42331480
12 DOCK8 NM_203447.3(DOCK8):c.1391C>T (p.Ser464Phe) SNV Uncertain significance 366674 rs531279290 9:336687-336687 9:336687-336687
13 STAT3 NM_139276.2(STAT3):c.*2343del Deletion Uncertain significance 323206 rs886052929 17:40465420-40465420 17:42313402-42313402
14 DOCK8 NM_203447.3(DOCK8):c.5467C>T (p.Pro1823Ser) SNV Uncertain significance 367026 rs766493394 9:441986-441986 9:441986-441986
15 STAT3 NM_139276.2(STAT3):c.*2343_*2344del Deletion Uncertain significance 323205 rs886052928 17:40465419-40465420 17:42313401-42313402
16 STAT3 NM_139276.2(STAT3):c.*894del Deletion Uncertain significance 323230 rs373212106 17:40466869-40466869 17:42314851-42314851
17 DOCK8 NM_203447.3(DOCK8):c.6068+11A>C SNV Uncertain significance 367035 rs886063964 9:452128-452128 9:452128-452128
18 STAT3 NM_003150.4(STAT3):c.*342_*344GTT[3] Microsatellite Likely benign 323237 rs533596827 17:40467410-40467412 17:42315392-42315394
19 DOCK8 NM_203447.3(DOCK8):c.404+16del Deletion Likely benign 180037 rs727505303 9:289591-289591 9:289591-289591
20 DOCK8 NM_203447.3(DOCK8):c.3234+15del Deletion Likely benign 366971 rs375864618 9:399268-399268 9:399268-399268
21 STAT3 NM_139276.2(STAT3):c.*264dup Duplication Likely benign 323238 rs554015274 17:40467498-40467499 17:42315480-42315481
22 DOCK8-AS1 NM_203447.3(DOCK8):c.-113C>T SNV Benign 369626 rs2236547 9:214864-214864 9:214864-214864
23 STAT3 NM_139276.3(STAT3):c.1601-10dup Duplication Benign 165294 rs3830585 17:40475650-40475651 17:42323632-42323633
Sources

Expression for Hyper Ige Syndrome

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Search GEO for disease gene expression data for Hyper Ige Syndrome.
Sources

Pathways for Hyper Ige Syndrome

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Pathways related to Hyper Ige Syndrome according to GeneCards Suite gene sharing:

(show top 50) (show all 75)
# Super pathways Score Top Affiliating Genes
1
Innate Immune System 65
Show member pathways
 14.08 TYK2 TNF TLR4 TLR2 STAT3 IRAK4
2
PEDF Induced Signaling 63
Show member pathways
 13.74 TYK2 TNF TLR4 STAT3 IL6ST IL4
3
TGF-Beta Pathway 63
Show member pathways
 13.58 TYK2 TNF STAT3 IL4 IL17A IL13
4
Akt Signaling 63
Show member pathways
 13.48 TNF TLR4 TLR2 STAT3 IRAK4 IL4
5
Cytokine Signaling in Immune system 65
Show member pathways
 13.4 TYK2 TNF STAT3 IRAK4 IL6ST IL4
6
IL-2 Pathway 63
Show member pathways
 13.26 TNF TLR4 TLR2 STAT3 IRAK4 IL4
7
Toll-like Receptor Signaling Pathway 36 1
Show member pathways
 13.14 TYK2 TNF TLR4 TLR2 STAT3 IRAK4
8
Human cytomegalovirus infection 36
Show member pathways
 13.03 TYK2 TNF TLR4 TLR2 STAT3 IRAK4
9
Allograft rejection 36 1
Show member pathways
 12.93 TNF IL4 IL17A IL13 IL10 IFNG
10
Measles 36
Show member pathways
 12.92 TYK2 TNF TLR4 TLR2 STAT3 IRAK4
11
Pathways in cancer 36
12.87 STAT3 IL6ST IL4 IL13 IFNG
12
Herpes simplex virus 1 infection 36
12.84 TYK2 TNF TLR2 IRAK4 IFNG
13
Common Cytokine Receptor Gamma-Chain Family Signaling Pathways 64
Show member pathways
 12.81 TYK2 TNF STAT3 IL4 IL21R
14
T cell receptor signaling pathway 36
Show member pathways
 12.69 TNF TLR4 TLR2 STAT3 IL4 IL17A
15
Immune response NFAT in immune response 23
Show member pathways
 12.68 TNF IL4 IL10 IGHE IFNG
16
Immune response IL-23 signaling pathway 23
Show member pathways
 12.68 TYK2 TNF STAT3 IL17A IL10 IFNG
17
Immune response Fc epsilon RI pathway 23
Show member pathways
 12.65 TNF IL4 IL13 IGHE CSF2
18
NF-kappaB Signaling 4
12.58 TYK2 TNF TLR2 STAT3 IRAK4 IL6ST
19
JAK-STAT signaling pathway 36
Show member pathways
 12.53 TYK2 STAT3 IL6ST IL4 IL21R IL13
20
Development IGF-1 receptor signaling 23
Show member pathways
 12.43 TYK2 STAT3 IL4 IGHE
21
CNTF Signaling 63
Show member pathways
 12.43 TYK2 TLR4 TLR2 STAT3 IL6ST
22
IL-17 Family Signaling Pathways 64
Show member pathways
 12.42 TNF TLR2 STAT3 IL6ST IL4 IL17A
23
Immune response IFN alpha/beta signaling pathway 23
Show member pathways
 12.36 TYK2 TNF IL4 IL17A IL13 IL10
24
Toll Comparative Pathway 63
Show member pathways
 12.35 TNF TLR4 IRAK4 IFNG
25
Proteoglycans in cancer 36
12.35 TNF TLR4 TLR2 STAT3
26
Tuberculosis 36
12.34 TNF TLR4 TLR2 IRAK4 IL10 IFNG
27
Diseases associated with the TLR signaling cascade 65
Show member pathways
 12.31 TNF TLR4 TLR2 IRAK4
28
Necroptosis 36
Show member pathways
 12.3 TYK2 TNF TLR4 STAT3 IFNG
29
Bacterial infections in CF airways 23
Show member pathways
 12.29 TNF TLR4 TLR2 IRAK4 IL4 IFNG
30
NOD-like receptor signaling pathway 36
12.28 TYK2 TNF TLR4 IRAK4
31
Colorectal Cancer Metastasis 63
12.28 TNF TLR4 TLR2 STAT3 IFNG
32
Toxoplasmosis 36
Show member pathways
 12.25 TYK2 TNF TLR4 TLR2 STAT3 IRAK4
33
Yersinia infection 36
12.16 TNF TLR4 IRAK4 IL10
34
MAPK Pathway 70
Show member pathways
 12.11 TLR4 TLR2 STAT3 IL13
35
Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers 64
12.1 TNF IL4 IL10 IFNG CSF2
36
Spinal Cord Injury 1
12.09 TNF TLR4 IL4 IFNG
37
IL12-mediated signaling events 1
Show member pathways
 12.06 TYK2 STAT3 IL4 IFNG
38
Amoebiasis 36
12.06 TNF TLR4 TLR2 IL10 IFNG CSF2
39
Interleukin-4 and 13 signaling 65
12.06 TYK2 TNF STAT3 IL4 IL17A IL13
40
Rheumatoid arthritis 36
12.01 TNF TLR4 TLR2 IL17A IFNG CSF2
41
Cytokine production by Th17 cells in CF (Mouse model) 23
Show member pathways
 12 TLR4 STAT3 IL6ST IL21R IL17A CSF2
42
Th17 cell differentiation 36
Show member pathways
 11.94 TYK2 TNF TLR4 TLR2 STAT3 IL6ST
43
Glucocorticoid receptor regulatory network 1
11.91 IL4 IL13 IFNG CSF2
44
Innate Lymphoid Cell Differentiation Pathways 64
11.9 TNF IL4 IL17A IL13 IL10 IFNG
45
Pertussis 36
11.87 TNF TLR4 IRAK4 IL10
46
Calcineurin-regulated NFAT-dependent transcription in lymphocytes 1
Show member pathways
 11.87 TNF IL4 IFNG CSF2
47
IL6-mediated signaling events 1
Show member pathways
 11.86 TYK2 STAT3 IL6ST
48
Dendritic Cells Developmental Lineage Pathway 64
11.85 TNF IL10 IFNG CSF2
49
Commom Cytokine Receptor G Chain Siganaling Pathway 66
11.84 TYK2 STAT3 IL4 IL21R
50
IgA-Producing B Cells in the Intestine 64
11.81 TNF TLR4 TLR2 IL4 IL10
Sources

GO Terms for Hyper Ige Syndrome

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Cellular components related to Hyper Ige Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.81 TNF IL6ST IL4 IL17A IL13 IL10
2 extracellular space GO:0005615 9.61 TNF IRAK4 IL6ST IL4 IL17A IL13
3 external side of plasma membrane GO:0009897 9.1 TNF TLR4 IL6ST IL17A IL13 IGHE

Biological processes related to Hyper Ige Syndrome according to GeneCards Suite gene sharing:

(show top 50) (show all 65)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.25 TNF TLR4 TLR2 STAT3 IL4 IL17A
2 positive regulation of gene expression GO:0010628 10.08 TNF TLR4 TLR2 STAT3 IL4 IL13
3 inflammatory response GO:0006954 10.06 TNF TLR4 TLR2 STAT3 IL17A IL13
4 defense response to bacterium GO:0042742 10.03 TNF TLR4 IL10 IGHE
5 response to lipopolysaccharide GO:0032496 9.99 TLR4 TLR2 IL13 IL10
6 cellular response to lipopolysaccharide GO:0071222 9.99 TNF TLR4 IL10 CSF2
7 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.98